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DOID:12270 - coloboma
Disease Ontology Definition:An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
Synonyms: coloboma of eye, coloboma of macula, congenital ocular coloboma
Xenbase Genes
:
pax6,
shh,
sall2
| MONDO:0001476 - deltoid |
| MIM:120200 - MICROPHTHALMIA/COLOBOMA 12; MCOPCB12 |
| MIM:120300 - COLOBOMA OF MACULA |
| MIM:216820 - COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
eye disease (is_a)